Institutional Price 
6 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA

Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic facial features, growth retardation, limb defects, and genital hypoplasia. Skeletal anomalies include mesomelic or acromesomelic limb shortening, hemivertebrae, and brachydactyly. Characteristic facial features include macrocephaly, prominent broad forehead, hypertelorism, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large triangular mouth, micrognathia, and low-set ears. Patients with autosomal recessive RS (RRS) appear to be more severely affected than those believed to have autosomal dominant RS (DRS). Rib fusions are not seen in individuals with DRS. Mutations of the ROR2 [OMIM #602337] gene have been identified in patients with RRS. Approximately 65-100% of individuals with RRS have mutations in ROR2.To date, two missense mutations in WNT5A [OMIM#164975] have been identified in patients with Autosomal Dominant Robinow syndrome